Shinya Yamamoto, D.V.M, Ph.D. ‘12, is an assistant professor in the Department of Molecular and Human Genetics at Baylor College of Medicine and an investigator in the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital. He also serves as the associate director of the Genetics and Genomics Graduate Program at Baylor to train the next generation of scientists, and as a co-director of the Model Organisms Screening Center for the Undiagnosed Disease Network, a co-investigator of the Center for Precision Medicine Models at Baylor, and the chair of the Functional Study Working Group of the Undiagnosed Diseases Network International to facilitate the diagnosis and mechanistic studies of rare and undiagnosed diseases in the United States and worldwide. Dr. Yamamoto obtained his B.S. and D.V.M. degrees in Japan prior to joining the Graduate Program in Developmental Biology at Baylor in 2005. He obtained his Ph.D. in 2012 under the mentorship of Hugo Bellen, D.V.M., Ph.D., and immediately started his own research group at Texas Children’s Hospital as a NRI Fellow in 2013. He became a tenure-track assistant professor in 2017.
Dr. Yamamoto is known as one of the pioneers who established the fruit fly, Drosophila melanogaster, as a clinical diagnostic and discovery tool for rare genetic disorders. In collaboration with Dr. Bellen and Michael Wangler, M.D., at Baylor, Dr. Yamamoto has contributed to discoveries of over 50 new human disease genes and phenotypic expansions over the past decade, helping many patients and family members who have been struggling through long and winding “diagnostic odysseys.” These studies also revealed novel pathogenic mechanisms of neurodevelopmental and neurodegenerative diseases. In addition to generating innovative Drosophila genetic tools and resources that quickly allow scientists to study the functional consequences of “variants of unknown significance” found in patient’s genomic DNA, Dr. Yamamoto has also been developing several online tools including MARRVEL and ModelMatcher to facilitate rare and undiagnosed diseases research. These tools allow clinicians, scientist, and patients/parents to gather valuable information regarding gene function across multiple species rapidly and effectively, and to further facilitate collaborations between basic scientists and clinical researchers around the world. Dr. Yamamoto is committed to improving the lives of patients and families affected by rare and undiagnosed diseases through performing innovative functional studies using fruit flies in his laboratory as well as through outreach activities to facilitate collaborations between experts who possess complemental expertise at a global scale. He is also highly committed to graduate education to help foster the next generation of talented scientists and physician scientists at Baylor who will go on to make many impacts on biomedical research and patient care, especially in the field of genetics and genomics.
